Canonical Allele Identifier: CA212733
Gene: CYB5R3 HGNC NCBI

Linked Data

ClinVar Variation Id: 242
ClinVar RCV Id: RCV000000266
dbSNP Id: rs794728012
MyVariant Identifiers: chr22:g.43015866_43015868del (hg19) chr22:g.42619860_42619862del (hg38)
PubMed: PMID:7718898 PMID:18318771
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42619862_42619864del , CM000684.2:g.42619862_42619864del GRCh38
NC_000022.10:g.43015868_43015870del , CM000684.1:g.43015868_43015870del GRCh37
NC_000022.9:g.41345812_41345814del NCBI36
NG_012194.1:g.34538_34540del

Transcript Alleles

HGVS Amino-acid change
ENST00000361740.9:c.949_951del ENSP00000354468.5:p.Met317del
ENST00000402438.6:c.748_750del ENSP00000385679.1:p.Met250del
ENST00000407332.6:c.835_837del ENSP00000384457.2:p.Met279del
ENST00000407623.8:c.748_750del ENSP00000384834.3:p.Met250del
ENST00000617178.5:c.354_356del
ENST00000684963.1:n.2557_2559del
ENST00000685184.1:n.409_411del
ENST00000686523.1:c.*766_*768del ENSP00000508940.1:n.*766_*768del
ENST00000687183.1:n.1093_1095del
ENST00000687198.1:c.748_750del ENSP00000508492.1:p.Met250del
ENST00000688117.1:c.916_918del ENSP00000509015.1:p.Met306del
ENST00000688244.1:c.517_519del ENSP00000510355.1:p.Met173del
ENST00000689001.1:n.1439_1441del
ENST00000689195.1:c.733_735del ENSP00000509895.1:p.Met245del
ENST00000689239.1:n.984_986del
ENST00000689795.1:n.1078_1080del
ENST00000690835.1:c.*196_*198del ENSP00000509038.1:n.*196_*198del
ENST00000690993.1:n.1572_1574del
ENST00000691295.1:c.*300_*302del ENSP00000508706.1:n.*300_*302del
ENST00000692152.1:c.748_750del ENSP00000509317.1:p.Met250del
ENST00000692344.1:n.1304_1306del
ENST00000693363.1:c.859_861del ENSP00000510411.1:p.Met287del
ENST00000693367.1:c.817_819del ENSP00000508815.1:p.Met273del
ENST00000352397.10:c.817_819del MANE Select ENSP00000338461.6:p.Met273del
ENST00000352397.9:c.817_819del ENSP00000338461.6:p.Met273del
ENST00000361740.8:c.916_918del ENSP00000354468.4:p.Met306del
ENST00000402438.5:c.748_750del ENSP00000385679.1:p.Met250del
ENST00000407332.5:c.748_750del ENSP00000384457.1:p.Met250del
ENST00000407623.7:c.748_750del ENSP00000384834.3:p.Met250del
ENST00000470741.1:n.2951_2953del
NM_000398.6:c.817_819del NP_000389.1:p.Met273del
NM_001129819.2:c.748_750del NP_001123291.1:p.Met250del
NM_001171660.1:c.916_918del NP_001165131.1:p.Met306del
NM_001171661.1:c.748_750del NP_001165132.1:p.Met250del
NM_007326.4:c.748_750del NP_015565.1:p.Met250del
NM_000398.7:c.817_819del MANE Select NP_000389.1:p.Met273del
NM_001171660.2:c.916_918del NP_001165131.1:p.Met306del
Search 100 bp 5'
Search 100 bp 3'